Protein folding and calcium binding defects arising from familial hypercholesterolemia mutations of the LDL receptor

被引：110
作者：
Blacklow, SC
Kim, PS
机构：
[1] MIT,CAMBRIDGE CTR 9,HOWARD HUGHES MED INST,WHITEHEAD INST BIOMED RES,CAMBRIDGE,MA 02142
[2] MIT,CAMBRIDGE CTR 9,DEPT BIOL,CAMBRIDGE,MA 02142
[3] BRIGHAM & WOMENS HOSP,DEPT PATHOL,BOSTON,MA 02115
来源：
NATURE STRUCTURAL BIOLOGY | 1996年 / 3卷 / 09期
关键词：
D O I：
10.1038/nsb0996-758
中图分类号：
Q5 [生物化学]; Q7 [分子生物学];
学科分类号：
071010 ; 081704 ;
摘要：
Studies of a critical module in the ligand binding domain of the LDL receptor implicate a protein folding defect, coupled to a deficiency in calcium binding, as a major cause of familial hypercholesterolemia.
引用
收藏
页码：758 / 762
页数：5
相关论文
共 39 条
[21]   APOLIPOPROTEIN-E - CHOLESTEROL TRANSPORT PROTEIN WITH EXPANDING ROLE IN CELL BIOLOGY [J].
MAHLEY, RW .
SCIENCE, 1988, 240 (4852) :622-630
[22]   RELATIONSHIPS BETWEEN THE GENE AND PROTEIN-STRUCTURE IN HUMAN-COMPLEMENT COMPONENT C9 [J].
MARAZZITI, D ;
EGGERTSEN, G ;
FEY, GH ;
STANLEY, KK .
BIOCHEMISTRY, 1988, 27 (17) :6529-6534
[23]  
MURDOCH AD, 1992, J BIOL CHEM, V267, P8544
[24]   A PROTEIN DISSECTION STUDY OF A MOLTEN GLOBULE [J].
PENG, ZY ;
KIM, PS .
BIOCHEMISTRY, 1994, 33 (08) :2136-2141
[25]   THE STRUCTURE OF A CA2+-BINDING EPIDERMAL GROWTH FACTOR-LIKE DOMAIN - ITS ROLE IN PROTEIN-PROTEIN INTERACTIONS [J].
RAO, Z ;
HANDFORD, P ;
MAYHEW, M ;
KNOTT, V ;
BROWNLEE, GG ;
STUART, D .
CELL, 1995, 82 (01) :131-141
[26]   AUTOIMMUNE TARGET IN HEYMANN NEPHRITIS IS A GLYCOPROTEIN WITH HOMOLOGY TO THE LDL RECEPTOR [J].
RAYCHOWDHURY, R ;
NILES, JL ;
MCCLUSKEY, RT ;
SMITH, JA .
SCIENCE, 1989, 244 (4909) :1163-1165
[27]  
Sambrook J., 2002, MOL CLONING LAB MANU
[28]  
Schneider W J, 1983, Mol Biol Med, V1, P353
[29]   FORMATION OF A NATIVE-LIKE SUBDOMAIN IN A PARTIALLY FOLDED INTERMEDIATE OF BOVINE PANCREATIC TRYPSIN-INHIBITOR [J].
STALEY, JP ;
KIM, PS .
PROTEIN SCIENCE, 1994, 3 (10) :1822-1832
[30]  
STUDIER FW, 1990, METHOD ENZYMOL, V185, P60
1234